Sporadic Creutzfeldt-Jakob disease: A clinical approach of a small case series and literature review

Abstract

Introduction. Creutzfeldt-Jakob Disease (CJD) is a very rare neurodegenerative disease with no cure that always leads to death. It is the most frequent prion disease and has multiple recognized forms, from which the sporadic form (sCJD) is the most common. The defining histological characteristic of CJD is the accumulation of the abnormal prion protein (PrPSc) along with neuronal loss and spongiform vacuolation. Typical neurological signs found in sCJD are rapidly progressive dementia, myoclonus, visual disturbances, pyramidal signs, extrapyramidal signs, behavioral changes and akinetic mutism. Material and method. We performed a retrospective study over the 2007-2017 period that included five cases of patients diagnosed with probable sCJD from our department. Results. The most common findings in the patients’ MRI were cerebral atrophy and ventricular enlargement, but we also found typical MRI changes such as increased T2 and FLAIR signal intensity in the head of the caudate nucleus, putamen and cerebral cortex. Repeated electroencephalograms showed typical sCJD patterns like periodic sharp wave complexes, mostly with biphasic or triphasic aspect. A complex differential diagnosis and numerous routine investigations (CBC, biochemical analysis, autoimmune panel, HIV antibodies, VDRL, anti-Borrelia antibodies, anti-TPO antibodies, anti-neuronal antibodies, B12 vitamin) were performed, without indicating an alternative diagnosis. All the patients died several months after the onset of symptoms. Conclusions. Given the rarity of the disease and the broad differential diagnosis, CJD proves to be a diagnostic challenge. In the absence of an alternative diagnosis, the association of rapidly progressive dementia, myoclonus, visual and cerebellar signs are highly suggestive for sCJD.

Keywords

• sporadic creutzfeldt-jakob disease
• prion disease
• rapidly progressive dementia